Zobrazeno 1 - 10
of 141
pro vyhledávání: '"Bharucha-Goebel D"'
Autor:
Bharucha-Goebel, D. X.1,2, Todd, J. J.1, Saade, D.1,3, Norato, G.4, Jain, M.5, Lehky, T.4, Bailey, R. M.6, Chichester, J. A.7, Calcedo, R.8, Armao, D.9,10, Foley, A. R.1, Mohassel, P.1, Tesfaye, E.11, Carlin, B. P.12, Seremula, B.13, Waite, M.5, Zein, W. M.14, Huryn, L.14, Crawford, T. O.15,16,17, Sumner, C. J.15,16,18
Publikováno v:
New England Journal of Medicine. 3/21/2024, Vol. 390 Issue 12, p1092-1104. 13p.
Autor:
Mayhew, A. G., James, M. K., Moore, U., Sutherland, H., Jacobs, M., Feng, J., Lowes, L. P., Alfano, L. N., Muni Lofra, R., Rufibach, L. E., Rose, K., Duong, T., Bello, L., Pedrosa-Hernandez, I., Holsten, S., Sakamoto, C., Canal, A., Sanchez-Aguilera Praxedes, N., Thiele, S., Siener, C., Vandevelde, B., Dewolf, B., Maron, E., Gordish-Dressman, H., Hilsden, H., Guglieri, M., Hogrel, J. -Y., Blamire, A. M., Carlier, P. G., Spuler, S., Day, J. W., Jones, K. J., Bharucha-Goebel, D. X., Salort-Campana, E., Pestronk, A., Walter, M. C., Paradas, C., Stojkovic, T., Mori-Yoshimura, M., Bravver, E., Diaz-Manera, J., Pegoraro, E., Mendell, J. R., Jain COS Consortium, Straub, V.
Dysferlinopathy is a muscular dystrophy with a highly variable functional disease progression in which the relationship of function to some patient reported outcome measures (PROMs) has not been previously reported. This analysis aims to identify the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e0372f0afd35e5b3c88a636fb40b4f22
http://hdl.handle.net/11577/3443657
http://hdl.handle.net/11577/3443657
Autor:
Bharucha-Goebel, D.1,2 (AUTHOR), Lee, M.1 (AUTHOR), Saade, D.1,3 (AUTHOR), Donkervoort, S.1 (AUTHOR), Yun, P.1 (AUTHOR), Mohassel, P.1,4 (AUTHOR), Neuhaus, S.1,5 (AUTHOR), Ogata, T.1,6 (AUTHOR), Averion, G.1 (AUTHOR), Mendoza, C.1 (AUTHOR), Alter, K.7 (AUTHOR), Matsubara, J.7 (AUTHOR), Stanley, C.7 (AUTHOR), Zampieri, C.7 (AUTHOR), Lehky, T.8 (AUTHOR), Nickolls, A.9,10 (AUTHOR), Chesler, A.10,11 (AUTHOR), Foley, A.1 (AUTHOR), Bonnemann, C.1 (AUTHOR)
Publikováno v:
Neuromuscular Disorders. 2024 Supplement 1, Vol. 43, pN.PAG-N.PAG. 1p.
Autor:
Bharucha-Goebel, D., Saade, D., Todd, J., Lehky, T., Norato, G., Armao, D., Bouldin, T., Averion, G., Hu, Y., Mohassel, P., Donkervoort, S., Corse, A., Foley, A., DeLong, T., Acquaye, N., Hinkley, L., Mendoza, C., Hoke, A., Gray, S., Bönnemann, C.
Publikováno v:
In Neuromuscular Disorders October 2023 33 Supplement 1:S189-S190
Autor:
Bharucha-Goebel, D., Saade, D., Todd, J., Huryn, L., Norato, G., DeLong, T., Averion, G., Donkervoort, S., Foley, A., Acquaye, N., Mendoza, C., Gray, S., Zein, W., Bonnemann, C.
Publikováno v:
In Neuromuscular Disorders October 2023 33 Supplement 1:S189-S189
Autor:
Foley, A., Donkervoort, S., Bharucha-Goebel, D., Saade, D., Flynn, L., Grunseich, C., Hu, Y., Bruels, C., Littel, H., Estrella, E., Krishnamoorthy, K., Chao, K., Pais, L., Kunkel, L., Kang, P., Bönnemann, C.
Publikováno v:
In Neuromuscular Disorders October 2023 33 Supplement 1:S114-S114
Akademický článek
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Autor:
Moore, U., Jacobs, Marni, James, Meredith K, Mayhew, A. G., Fernandez-Torron, Roberto, Feng, J., Cnaan, A., Eagle, M., Bettinson, K., Rufibach, L. E., Lofra, R. M., Blamire, A. M., Carlier, P. G., Mittal, P., Lowes, L. P., Alfano, L., Rose, K., Duong, T., Berry, K. M., Montiel-Morillo, E., Pedrosa-Hernández, I., Holsten, S., Sanjak, M., Ashida, A., Sakamoto, C., Tateishi, T., Yajima, H., Canal, A., Ollivier, G., Decostre, V., Mendez, J. B., Praxedes, N. S. A., Thiele, S., Siener, C., Shierbecker, J., Florence, J. M., Vandevelde, B., Dewolf, B., Hutchence, M., Gee, R., Prügel, J., Maron, E., Hilsden, Heather, Lochmüller, H., Grieben, U., Spuler, Simone, Rocha, C. T., Day, J. W., Jones, K. J., Bharucha-Goebel, D. X., Salort-Campana, Emmanuelle, Harms, M., Pestronk, Alan, Krause, S., Schreiber-Katz, Olivia, Walter, M. C., Paradas, C., Hogrel, J. Y., Stojkovic, T., Takeda, S., Mori-Yoshimura, M., Bravver, Elena, Sparks, S., Diaz-Manera, Jordi., Bello, Luca, Semplicini, C., Pegoraro, E., Mendell, J. R., Bushby, Kate, Straub, V., Universitat Autònoma de Barcelona
Publikováno v:
Dipòsit Digital de Documents de la UAB
Universitat Autònoma de Barcelona
Digital.CSIC. Repositorio Institucional del CSIC
instname
Universitat Autònoma de Barcelona
Digital.CSIC. Repositorio Institucional del CSIC
instname
Jain COS Consortium.
[Objective] To assess the ability of functional measures to detect disease progression in dysferlinopathy over 6 months and 1 year.
[Methods] One hundred ninety-three patients with dysferlinopathy were recruited to the
[Objective] To assess the ability of functional measures to detect disease progression in dysferlinopathy over 6 months and 1 year.
[Methods] One hundred ninety-three patients with dysferlinopathy were recruited to the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e203882245b6c4704b1e13b41dad1cae
http://edoc.mdc-berlin.de/17999/1/17999oa.pdf
http://edoc.mdc-berlin.de/17999/1/17999oa.pdf
FP.35 Myostatin concentration is unreliable as a biomarker of disease progression in dysferlinopathy
Autor:
Moore, U., Simon, E. Fernandez, Day, J., Jones, K., Bharucha-Goebel, D., Pestronk, A., Walter, M., Paradas, C., Stojkovic, T., Bravver, E., Pegoraro, E., Mendell, J., Guglieri, M., Straub, V., Díaz-Manera, J.
Publikováno v:
In Neuromuscular Disorders October 2022 32 Supplement 1:S113-S113
Autor:
Bharucha-Goebel, D., Saade, D., Todd, J., Norato, G., Jain, M., Waite, M., Armao, D., Foley, A., Lehky, T., Averion, G., Hu, Y., Mohassel, P., Hoke, A., DeLong, T., Acquaye, N., Hinkley, L., Chichester, J., Mendoza, C., Soldatos, A., Gray, S., Bönnemann, C.
Publikováno v:
In Neuromuscular Disorders October 2022 32 Supplement 1:S94-S94